LGMD “Spotlight interview”
Name: William Age: 62 years old
Country: United States
LGMD Sub-Type: LGMD D1 DNAJB6-related (Formerly LGMD type 1D)
At what age were you diagnosed:
I was clinically diagnosed at the age of 40 and then 5 years later, at the age of 45, I received genetic confirmation of my LGMD 1D diagnosis.
What were your first symptoms:
As a child I was slow. Around the age of 45, I experienced difficulty running.
Do you have other family members who have LGMD:
Yes, my brother who is 67 has LGMD1D and so does my daughter.
What do you find to be the greatest challenges in living with LGMD:
The greatest challenge for me has been adjusting to the weakness and having to gradually slow down.
What is your greatest accomplishment:
My greatest accomplishment has been starting the LGMD-1D DNAJB6 Foundation which is a non-profit public foundation whose mission is to maintain a central location for individuals diagnosed with Limb Girdle Muscular Dystrophy type 1D (LGMD1D) to meet, consolidate relevant news, and launch fundraising efforts in order to advance research. https://lgmd1d.org
I have also established a Patient Registry for all patients diagnosed with an autosomal dominant form of LGMD. (LGMD type 1)
How has LGMD influenced you into becoming the person you are today:
LGMD has impacted my life and who I am today. Slowing down has made me appreciate what is around me, family, friends and connects.
What do you want the world to know about LGMD:
We need to continue to spread the word and connecting in ways that aids in a cure. For instance, an autosomal dominant LGMD (LGMD type 1) patient registry will be vital to research and finding a cure.
If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:
If I were cured tomorrow, I would go dancing and play soccer with my grandgirls!!